Scientific Commons: G. E.

Leptonic emission from microquasar jets: from radio to very high-energy gamma-rays (2006)

Bosch-Ramon,
V.,
Paredes,
M., J.,
Romero,
E, G.

Microquasars are sources of very high-energy gamma-rays and, very probably, high-energy gamma-ray emitters. We propose a model for a jet that can allow to give accurate observational predictions for...

Imprinting control within the compact Gnas locus (2006)

Peters,
J.,
Holmes,
R.,
Monk,
D.,
...

Mouse distal chromosome 2 was one of the earliest described imprinting regions. Maternal and paternal inheritance of the region is associated with opposite phenotypes affecting growth, development...

Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies. (2006)

Zhou,
H.,
Brockington,
M.,
Jungbluth,
H.,
...

Functional characterisation and serial imaging of abnormal fundus autofluorescence in patients with retinitis pigmentosa and normal visual acuity. (2006)

Robson,
A.G.,
Saihan,
Z.,
Jenkins,
S.A.,
...

Mutation in the gene KCNV2, encoding a voltage-gated potassium channel subunit cause cone dystrophy with a supernormal rod electroretinogram in humans. (2006)

Wu,
H.,
Cowing,
J.A.,
Michaelides,
M.,
...

Braided Rivers: process, deposits, ecology and management. (2006)

Sambrook Smith,
G.H.,
Best,
J.L.,
Bristow,
C.S.,
...

Braided rivers: where have we come in 10 years? Progress and future research. (2006)

Sambrook Smith,
G.H.,
Best,
J.L.,
Bristow,
C.S.,
...

Heavy Metals Concentrations in Coal and Sediments from River Ekulu in Enugu, CoalCity of Nigeria (2005)

ADAIKPOH,
E O; NWAJEI,
G E; OGALA,
J E

The levels of some heavy metals such as; Mn, Cr, Cd, As, Ni, and Pb were analysed in coal and sediment samples from River Ekulu in Enugu, Coal City using Atomic Absorption Spectrophotometer (AAS)...

Mycosis fungoides with a CD56(+) immunophenotype (2005)

Wain,
E.M.,
Orchard,
G.E.,
Mayou,
S.,
...

We report 3 cases of mycosis fungoides (MF) with a CD56(+) cytotoxic immunophenotype. Each patient presented with a different clinical phenotype: one exhibited limited poikilodermatous patches (skin...

Improved survival after unrelated donor bone marrow transplantation in children with primary immunodeficiency using a reduced-intensity conditioning regimen (2005)

Rao,
K.,
Amrolia,
P.J.,
Jones,
A.,
...

The optimal approach to stem cell transplantation in children with immunodeficiency who lack a matched family donor is controversial. Unrelated donor stem cell transplantation gives equivalent...

A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of swiss ancestry with congenital lipoid adrenal hyperplasia (2005)

Fluck,
C.E.,
Maret,
A.,
Mallet,
D.,
...

Context: Lipoid congenital adrenal hyperplasia (CAH) is the most severe form of CAH leading to impaired production of all adrenal and gonadal steroids. Mutations in the gene encoding steroidogenic...

Analysis of the planar cell polarity gene VANGL2 and its co- expressed paralogue VANGL1 in neural tube defect patients (2005)

Doudney,
K.,
Moore,
G.E.,
Stanier,
P.,
...

Analysis of the planar cell polarity gene Vangl2 and its, co-expressed paralog Vangl1 in neural tube defect patients (vol 136A, pg 90, 2005) (2005)

Doudney,
K.,
Moore,
G.E.,
Stanier,
P.,
...

Impaired dendritic-cell homing in vivo in the absence of Wiskott-Aldrich syndrome protein (2005)

De Noronha,
S.,
Hardy,
S.,
Sinclair,
J.,
...

Regulated migration and spatial localization of dendritic cells (DCs) are critical events during the initiation of physiologic immune responses and maintenance of tolerance. Here we have used cells...

Activation of key profibrotic mechanisms in transgenic fibroblasts expressing kinase-deficient type II Transforming growth factor-{beta} receptor (T{beta}RII{delta}k). (2005)

Denton,
C.P.,
Lindahl,
G.E.,
Khan,
K.,
...

How do patients who participate in cancer support groups differ from those who do not? (2005)

Grande,
G.E.,
Myers,
L.B.,
Sutton,
S.R.

A detailed phenotypic study of "cone dystrophy with supernormal rod ERG" (2005)

Michaelides,
M.,
Holder,
G.E.,
Webster,
A.R.,
...

AIMS: To characterise the detailed phenotype of "cone dystrophy with supernormal rod ERG" in a case series of 10 patients. METHODS: 10 affected patients were examined clinically and underwent colour...

A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1 (2005)

Michaelides,
M.,
Holder,
G.E.,
Hunt,
D.M.,
...

AIM: To characterise the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with the Arg844His mutation in RIM1. METHODS: Eight members of a four generation, non-consanguineous...

Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene (2005)

Michaelides,
M.,
Holder,
G.E.,
Bradshaw,
K.,
...

PURPOSE: To determine the underlying molecular genetic basis of a retinal dystrophy identified in a 5-generation family, and to examine the phenotype and degree of intrafamilial variability. DESIGN:...

Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families (2005)

Ebenezer,
N.D.,
Michaelides,
M.,
Jenkins,
S.A.,
...

PURPOSE: To test the incidence of mutations in RPGR ORF15 in six families with X-linked progressive retinal degeneration (cone-rod dystrophy [XLCORD], macular or cone dystrophy) and to undertake a...

Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy (2005)

Michaelides,
M.,
Wilkie,
S.E.,
Jenkins,
S.,
...

PURPOSE: To determine the underlying molecular genetic basis of a retinal dystrophy identified in a 4-generation family and to examine the phenotype and the degree of intrafamilial variability....

Comparison of fundus autofluorescence and minimum-motion measurements of macular pigment distribution profiles derived from identical retinal areas (2005)

Robson,
A.G.,
Harding,
G.,
Van Kuijk,
F.J.,
...

The optical density of macular pigment was measured at twelve retinal locations in ten subjects by minimum motion photometry, comparing 460 nm with 580 nm or 550 nm. Fundus autofluorescence images...

Optic chiasm formation in humans is independent of foveal development (2005)

Neveu,
M.M.,
Holder,
G.E.,
Sloper,
J.J.,
...

A failure of human foveal development only occurs in two genetically determined conditions; aniridia (Pax6 mutation) and albinism (tyrosinase mutation). The chiasmatic pathways from this region are...

X-linked cone dysfunction syndrome with myopia and protanopia (2005)

Michaelides,
M.,
Johnson,
S.,
Bradshaw,
K.,
...

PURPOSE: To perform a detailed clinical, psychophysical, and molecular assessment of members of 4 families with an unusual X-linked cone dysfunction syndrome associated with myopia. PARTICIPANTS:...

Acute zonal occult outer retinopathy: towards a set of diagnostic criteria (2005)

Francis,
P.J.,
Marinescu,
A.,
Fitzke,
F.W.,
...

BACKGROUND: Individuals with acute zonal occult outer retinopathy (AZOOR) present with initially progressive scotomata and photopsia. Characteristically, the extent of the visual field defect is...

Functional observations in vitamin A deficiency: diagnosis and time course of recovery (2005)

McBain,
V.A.,
Egan,
C.A.,
Pieris,
S.J.,
...

AimsTo describe the effects of vitamin A deficiency (VAD) on retinal function and the subsequent recovery following treatment in three patients with systemic conditions (two with Crohn disease; one...

Protein kinase C immunoreactivity in the pigmented and albino rat retina (2005)

Baker,
G.E.,
Dovey,
M.,
Davda,
P.,
...

The albino retina is abnormal. The central region is under-developed and some cell populations are reduced or increased in number. Not least of these anomalies is the deficit in the rod population in...

Physico-chemical and Mineralogical Characterisation of Subsurface Sediments around Gaborone Landfill, Botswana (2004)

NGOLE,
V M; TOTOLO,
O; EKOSSE,
G E

Studies were carried out on subsurface sediments obtained around the Gaborone landfill area Botswana, in order to characterize their mineralogy and physico-chemistry, appraise any contaminant inputs...

Maturation of DC is associated with changes in motile characteristics and adherence (2004)

Burns,
S.,
Hardy,
S.J.,
Buddle,
J.,
...

An autosomal recessive cone-rod dystrophy associated with amelogenesis imperfecta (2004)

Michaelides,
M.,
Bloch-Zupan,
A.,
Holder,
G.E.,
...

An automated algorithm for the computation of brain volume change from sequential MRIs using an iterative principal component analysis and its evaluation for the assessment of whole-brain atrophy rates in patients with probable Alzheimer's disease (2004)

Chen,
K.W.,
Reiman,
E.M.,
Alexander,
G.E.,
...

This article introduces an automated method for the computation of changes in brain volume from sequential magnetic resonance images (MRIs) using an iterative principal component analysis (IPCA) and...

The initial stages of aminosilanol polymerisation (2004)

French,
S.A.,
Sokol,
A.A.,
Catlow,
C.R.A. Kornherr,
...

Improved survival after unrelated donor bone marrow transplant in children with primary immunodeficiency using a reduced intensity conditioning regimen (2004)

Rao,
K.,
Amrolia,
P.J.,
Jones,
A.,
...

The optimal approach to stem cell transplantation in children with immunodeficiency who lack a matched family donor is controversial. Unrelated donor stem cell transplant gives equivalent outcome to...

Visual impairment and blindness in children (2003)

Gilbert,
C.,
Rahi,
J.S.,
Quinn,
G.E.

Deficits in a tricarboxylic acid cycle enzyme in brains from patients with Parkinson's disease (2003)

Gibson,
G.E.,
Kingsbury,
A.E.,
Xu,
H.,
...

Local antimicrobial therapy after initial periodontal treatment. A randomized clinical trial comparing three biodegradable sustained release polymers (2002)

Salvi,
G.E.,
Mombelli,
A.,
Mayfield,
L.,
...

Structure of calcium tetrasodium bis-cyclotriphosphate CaNa4(P3O9)2 by X-ray diffraction and solid-state NMR (2002)

Abrahams,
I.,
Hawkes,
G.E.,
Ahmed,
A.,
...

Configuration of human dendritic cell cytoskeleton by Rho GTPases, the WAS protein, and differentiation (2001)

Burns,
S.,
Thrasher,
A.J.,
Blundell,
M.P.,
...

New synthesis of (+/-)-alpha-CMBHC and its confirmation as a metabolite of alpha-tocopherol (Vitamin E) (2001)

Pope,
SA S.,
Burtin,
G.E.,
Clayton,
P.T.,
...

Improvement of wool quality by transgenesis. (2001)

Bawden,
C. S.,
McLaughlan,
C. J.,
Walker,
S. K.,
...

Four experiments aimed at creating wool fibres with improved qualities through sheep transgenesis are described. Attempts were made to increase expression of cysteine-rich proteins in the cortex,...

Evidence for skewed X inactication for the involvement of trisomy 7 mosaicism in the aetiology of Silver-Russell syndrome (2001)

Sharp.A.,
Moore,
G.E.

Evolutionary conservation, developmental expression, and genomic mapping of Twisted gastrulation (2001)

Graf,
D.,
Timmons,
P.M.,
Hitchins,
M.,
...

Evidence for skewed X inactication for the involvement of trisomy 7 mosaicism in the aetiology of Silver-Russell syndrome (2001)

Sharp.A.,
Moore,
G.E.

Examination of trisomy 13, 18 and 21 fetal tissues at different gestational ages using FISH (2000)

Moore,
G.E.,
Ruangvutilert,
P.,
Chatzimeletiou,
K.,
...

Confined placental mosaicism of trisomy 16 and multiple fetal anomalies: Case report (2000)

Johnson,
P.,
Duncan.,
Blunt,
S.,
Bell,
...

Silver-Russell syndrome and ring chromosome 7 (2000)

Wakeling,
E.L.,
Hitchins,
M.P.,
Monk,
D.,
...

Silver-Russell syndrome and ring chromosome 7 (2000)

Wakeling,
E.L.,
Hitchins,
M.P.,
Monk,
D.,
...

Rho GTPases and cell migration: measurement of macrophage chemotaxis (2000)

Jones,
G.E.,
Ridley,
A.J.,
Zicha,
D.

Examination of trisomy 13, 18 and 21 fetal tissues at different gestational ages using FISH (1999)

Moore,
G.E.,
Ruangvutilert,
P.,
Chatzimeletiou,
K.,
...

Rho family proteins and cell migration (1999)

Ridley,
A.J.,
Allen,
W.E.,
Peppelenbosch,
M.,
...

The GTP-binding proteins Rho, Rac and Cdc42 are known to regulate actin organization: Rho induces the assembly of contractile actin-based filaments such as stress fibres, Rac regulates the formation...

Multiple signal transduction pathways regulate TNF-induced actin reorganization in macrophages: inhibition of Cdc42-mediated filopodium formation by TNF (1999)

Peppelenbosch,
M.,
Boone,
E.,
Jones,
G.E.,
...

TNF is known to regulate macrophage (Mphi) migration, but the signaling pathways mediating this response have not been established. Here we report that stimulation of the 55-kDa TNF receptor (TNFR-1)...

Hydrological data for wetland management (1998)